News Releases & Research Results Visual restoration by innovative gene therapy using genome editing technologies – toward realization of Gene therapy to normalize gene mutations -

The results of R&D carried out by Associate Professor Koji Nishiguchi of the Department of Advanced Ophthalmic Medicine and Professor Toru Nakazawa of the Department of Ophthalmology, Tohoku University Graduate School of Medicine

• An adeno-associated virus(*) for gene therapy using genome editing technologies, which can
• “normalize” gene mutations, was successfully isolated.
  *Virus infectious to mammalian cells, utilized for gene therapy because of non-pathogenicity.
• This technique has realized genome editing 2-5 times more efficiently than the conventional methods and allowed the normalization of gene mutations in adult mouse neurons, for which genome editing has been difficult and no treatment has been available.
• A mouse experiment using this technique demonstrated about 60% recovery of visual acuity in completely blind retinal degeneration mice, compared to normal mice, demonstrating the effectiveness of the treatment.
• This R&D achievements should facilitate the establishment of gene therapies not only for retinitis pigmentosa, which has not been subjected to treatment, but also for many hereditary diseases.

This R&D project was conducted with the support of the Japan Agency for Medical Research and Development (AMED).
The results of R&D were published online in Nature Communications on January 24.

Koji M. Nishiguchi., et al. Single AAV-mediated mutation replacement genome editing in limited number of photoreceptors restores vision in mice Nature Communications

DOI：10.1038/s41467-019-14181-3